ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5287A>G (p.Ile1763Val)

dbSNP: rs1821630087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004577371 SCV002540267 uncertain significance Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2022-03-03 criteria provided, single submitter clinical testing The KAT6A c.5287A>G (p.Ile1763Val) missense variant results in the substitution of isoleucine at amino acid position 1763 with valine. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. This variant was identified in a de novo state. Based on the available evidence, the c.5287A>G (p.Ile1763Val) variant is classified as a variant of uncertain significance for KAT6A syndrome.

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